Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302148_6302150del | CA2839691 | WFS1 | c.2389_2391del (p.Ser797del) c.2330_2332del c.2353_2355del (p.Ser785del) c.2104_2106del (p.Ser702del) n.2538_2540del c.2362_2364del (p.Ser788del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302150C>A | CA356178430 | WFS1 | c.2391C>A (p.Ser797Arg) c.2332C>A c.2355C>A (p.Ser785Arg) c.2106C>A (p.Ser702Arg) n.2540C>A c.2364C>A (p.Ser788Arg) | gnomAD v4 |
4 | g.6302150C= | CA1435772397 | WFS1 | c.2391C= (p.Ser797=) c.2332C= c.2355C= (p.Ser785=) c.2106C= (p.Ser702=) n.2540C= c.2364C= (p.Ser788=) | |
4 | g.6302150C>G | CA356178431 | WFS1 | c.2391C>G (p.Ser797Arg) c.2332C>G c.2355C>G (p.Ser785Arg) c.2106C>G (p.Ser702Arg) n.2540C>G c.2364C>G (p.Ser788Arg) | |
4 | g.6302150C>T | CA2839694 | WFS1 | c.2391C>T (p.Ser797=) c.2332C>T c.2355C>T (p.Ser785=) c.2106C>T (p.Ser702=) n.2540C>T c.2364C>T (p.Ser788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302151G>A | CA285653 | WFS1 | c.2392G>A (p.Gly798Ser) c.2333G>A c.2356G>A (p.Gly786Ser) c.2107G>A (p.Gly703Ser) n.2541G>A c.2365G>A (p.Gly789Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302151G>C | CA356178433 | WFS1 | c.2392G>C (p.Gly798Arg) c.2333G>C c.2356G>C (p.Gly786Arg) c.2107G>C (p.Gly703Arg) n.2541G>C c.2365G>C (p.Gly789Arg) | dbSNP |
4 | g.6302151G= | CA1435772400 | WFS1 | c.2392G= (p.Gly798=) c.2333G= c.2356G= (p.Gly786=) c.2107G= (p.Gly703=) n.2541G= c.2365G= (p.Gly789=) | |
4 | g.6302151G>T | CA356178432 | WFS1 | c.2392G>T (p.Gly798Cys) c.2333G>T c.2356G>T (p.Gly786Cys) c.2107G>T (p.Gly703Cys) n.2541G>T c.2365G>T (p.Gly789Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302152G>A | CA356178434 | WFS1 | c.2393G>A (p.Gly798Asp) c.2334G>A c.2357G>A (p.Gly786Asp) c.2108G>A (p.Gly703Asp) n.2542G>A c.2366G>A (p.Gly789Asp) | |
4 | g.6302152G>C | CA2839695 | WFS1 | c.2393G>C (p.Gly798Ala) c.2334G>C c.2357G>C (p.Gly786Ala) c.2108G>C (p.Gly703Ala) n.2542G>C c.2366G>C (p.Gly789Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302152G= | CA1435772402 | WFS1 | c.2393G= (p.Gly798=) c.2334G= c.2357G= (p.Gly786=) c.2108G= (p.Gly703=) n.2542G= c.2366G= (p.Gly789=) | |
4 | g.6302152G>T | CA356178435 | WFS1 | c.2393G>T (p.Gly798Val) c.2334G>T c.2357G>T (p.Gly786Val) c.2108G>T (p.Gly703Val) n.2542G>T c.2366G>T (p.Gly789Val) | |
4 | g.6302153C>A | CA438368269 | WFS1 | c.2394C>A (p.Gly798=) c.2335C>A c.2358C>A (p.Gly786=) c.2109C>A (p.Gly703=) n.2543C>A c.2367C>A (p.Gly789=) | |
4 | g.6302153C= | CA1435772403 | WFS1 | c.2394C= (p.Gly798=) c.2335C= c.2358C= (p.Gly786=) c.2109C= (p.Gly703=) n.2543C= c.2367C= (p.Gly789=) | |
4 | g.6302153C>G | CA438368270 | WFS1 | c.2394C>G (p.Gly798=) c.2335C>G c.2358C>G (p.Gly786=) c.2109C>G (p.Gly703=) n.2543C>G c.2367C>G (p.Gly789=) | |
4 | g.6302153C>T | CA2839696 | WFS1 | c.2394C>T (p.Gly798=) c.2335C>T c.2358C>T (p.Gly786=) c.2109C>T (p.Gly703=) n.2543C>T c.2367C>T (p.Gly789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302154G>A | CA2839697 | WFS1 | c.2395G>A (p.Ala799Thr) c.2336G>A c.2359G>A (p.Ala787Thr) c.2110G>A (p.Ala704Thr) n.2544G>A c.2368G>A (p.Ala790Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302154G>C | CA2839698 | WFS1 | c.2395G>C (p.Ala799Pro) c.2336G>C c.2359G>C (p.Ala787Pro) c.2110G>C (p.Ala704Pro) n.2544G>C c.2368G>C (p.Ala790Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302154G= | CA1435772405 | WFS1 | c.2395G= (p.Ala799=) c.2336G= c.2359G= (p.Ala787=) c.2110G= (p.Ala704=) n.2544G= c.2368G= (p.Ala790=) | |
4 | g.6302154G>T | CA356178436 | WFS1 | c.2395G>T (p.Ala799Ser) c.2336G>T c.2359G>T (p.Ala787Ser) c.2110G>T (p.Ala704Ser) n.2544G>T c.2368G>T (p.Ala790Ser) | |
4 | g.6302154_6302155delinsAA | CA323327 | WFS1 | c.2395_2396delinsAA (p.Ala799Asn) c.2336_2337delinsAA c.2359_2360delinsAA (p.Ala787Asn) c.2110_2111delinsAA (p.Ala704Asn) n.2544_2545delinsAA c.2368_2369delinsAA (p.Ala790Asn) | ClinVar dbSNP |
4 | g.6302154_6302155delinsGC | CA1435772406 | WFS1 | c.2395_2396delinsGC (p.Ala799=) c.2336_2337delinsGC c.2359_2360delinsGC (p.Ala787=) c.2110_2111delinsGC (p.Ala704=) n.2544_2545delinsGC c.2368_2369delinsGC (p.Ala790=) | |
4 | g.6302155C>A | CA2839699 | WFS1 | c.2396C>A (p.Ala799Asp) c.2337C>A c.2360C>A (p.Ala787Asp) c.2111C>A (p.Ala704Asp) n.2545C>A c.2369C>A (p.Ala790Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302155C= | CA1435772407 | WFS1 | c.2396C= (p.Ala799=) c.2337C= c.2360C= (p.Ala787=) c.2111C= (p.Ala704=) n.2545C= c.2369C= (p.Ala790=) | |
4 | g.6302155C>G | CA356178437 | WFS1 | c.2396C>G (p.Ala799Gly) c.2337C>G c.2360C>G (p.Ala787Gly) c.2111C>G (p.Ala704Gly) n.2545C>G c.2369C>G (p.Ala790Gly) | gnomAD v4 |
4 | g.6302155C>T | CA356178438 | WFS1 | c.2396C>T (p.Ala799Val) c.2337C>T c.2360C>T (p.Ala787Val) c.2111C>T (p.Ala704Val) n.2545C>T c.2369C>T (p.Ala790Val) | |
4 | g.6302156T>A | CA438368271 | WFS1 | c.2397T>A (p.Ala799=) c.2338T>A c.2361T>A (p.Ala787=) c.2112T>A (p.Ala704=) n.2546T>A c.2370T>A (p.Ala790=) | |
4 | g.6302156T>C | CA2839700 | WFS1 | c.2397T>C (p.Ala799=) c.2338T>C c.2361T>C (p.Ala787=) c.2112T>C (p.Ala704=) n.2546T>C c.2370T>C (p.Ala790=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302156T>G | CA438368272 | WFS1 | c.2397T>G (p.Ala799=) c.2338T>G c.2361T>G (p.Ala787=) c.2112T>G (p.Ala704=) n.2546T>G c.2370T>G (p.Ala790=) | |
4 | g.6302156T= | CA1435772408 | WFS1 | c.2397T= (p.Ala799=) c.2338T= c.2361T= (p.Ala787=) c.2112T= (p.Ala704=) n.2546T= c.2370T= (p.Ala790=) | |
4 | g.6302157G>A | CA356178440 | WFS1 | c.2398G>A (p.Asp800Asn) c.2339G>A c.2362G>A (p.Asp788Asn) c.2113G>A (p.Asp705Asn) n.2547G>A c.2371G>A (p.Asp791Asn) | |
4 | g.6302157G>C | CA356178441 | WFS1 | c.2398G>C (p.Asp800His) c.2339G>C c.2362G>C (p.Asp788His) c.2113G>C (p.Asp705His) n.2547G>C c.2371G>C (p.Asp791His) | dbSNP gnomAD v4 |
4 | g.6302157G= | CA1435772409 | WFS1 | c.2398G= (p.Asp800=) c.2339G= c.2362G= (p.Asp788=) c.2113G= (p.Asp705=) n.2547G= c.2371G= (p.Asp791=) | |
4 | g.6302157G>T | CA356178439 | WFS1 | c.2398G>T (p.Asp800Tyr) c.2339G>T c.2362G>T (p.Asp788Tyr) c.2113G>T (p.Asp705Tyr) n.2547G>T c.2371G>T (p.Asp791Tyr) | |
4 | g.6302158A>C | CA356178442 | WFS1 | c.2399A>C (p.Asp800Ala) c.2340A>C c.2363A>C (p.Asp788Ala) c.2114A>C (p.Asp705Ala) n.2548A>C c.2372A>C (p.Asp791Ala) | |
4 | g.6302158A>G | CA356178444 | WFS1 | c.2399A>G (p.Asp800Gly) c.2340A>G c.2363A>G (p.Asp788Gly) c.2114A>G (p.Asp705Gly) n.2548A>G c.2372A>G (p.Asp791Gly) | |
4 | g.6302158A>T | CA356178443 | WFS1 | c.2399A>T (p.Asp800Val) c.2340A>T c.2363A>T (p.Asp788Val) c.2114A>T (p.Asp705Val) n.2548A>T c.2372A>T (p.Asp791Val) | |
4 | g.6302159C>A | CA356178445 | WFS1 | c.2400C>A (p.Asp800Glu) c.2341C>A c.2364C>A (p.Asp788Glu) c.2115C>A (p.Asp705Glu) n.2549C>A c.2373C>A (p.Asp791Glu) | |
4 | g.6302159C= | CA1435772410 | WFS1 | c.2400C= (p.Asp800=) c.2341C= c.2364C= (p.Asp788=) c.2115C= (p.Asp705=) n.2549C= c.2373C= (p.Asp791=) | |
4 | g.6302159C>G | CA356178446 | WFS1 | c.2400C>G (p.Asp800Glu) c.2341C>G c.2364C>G (p.Asp788Glu) c.2115C>G (p.Asp705Glu) n.2549C>G c.2373C>G (p.Asp791Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302159C>T | CA2839701 | WFS1 | c.2400C>T (p.Asp800=) c.2341C>T c.2364C>T (p.Asp788=) c.2115C>T (p.Asp705=) n.2549C>T c.2373C>T (p.Asp791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302160G>A | CA2839702 | WFS1 | c.2401G>A (p.Gly801Ser) c.2342G>A c.2365G>A (p.Gly789Ser) c.2116G>A (p.Gly706Ser) n.2550G>A c.2374G>A (p.Gly792Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302160G>C | CA356178447 | WFS1 | c.2401G>C (p.Gly801Arg) c.2342G>C c.2365G>C (p.Gly789Arg) c.2116G>C (p.Gly706Arg) n.2550G>C c.2374G>C (p.Gly792Arg) | COSMIC |
4 | g.6302160G= | CA1435772411 | WFS1 | c.2401G= (p.Gly801=) c.2342G= c.2365G= (p.Gly789=) c.2116G= (p.Gly706=) n.2550G= c.2374G= (p.Gly792=) | |
4 | g.6302160G>T | CA2839703 | WFS1 | c.2401G>T (p.Gly801Cys) c.2342G>T c.2365G>T (p.Gly789Cys) c.2116G>T (p.Gly706Cys) n.2550G>T c.2374G>T (p.Gly792Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302161G>A | CA356178448 | WFS1 | c.2402G>A (p.Gly801Asp) c.2343G>A c.2366G>A (p.Gly789Asp) c.2117G>A (p.Gly706Asp) n.2551G>A c.2375G>A (p.Gly792Asp) | |
4 | g.6302161G>C | CA2839704 | WFS1 | c.2402G>C (p.Gly801Ala) c.2343G>C c.2366G>C (p.Gly789Ala) c.2117G>C (p.Gly706Ala) n.2551G>C c.2375G>C (p.Gly792Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302161G= | CA1435772413 | WFS1 | c.2402G= (p.Gly801=) c.2343G= c.2366G= (p.Gly789=) c.2117G= (p.Gly706=) n.2551G= c.2375G= (p.Gly792=) | |
4 | g.6302161G>T | CA91797110 | WFS1 | c.2402G>T (p.Gly801Val) c.2343G>T c.2366G>T (p.Gly789Val) c.2117G>T (p.Gly706Val) n.2551G>T c.2375G>T (p.Gly792Val) | dbSNP gnomAD v3 gnomAD v4 |